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Seizures typically begin in the first months after birth but takes years before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder goes untreated, affected children experience developmental delay and frequently have neurological problems.
Various defects in one gene underlie the syndrome. They cause the Glut1 protein to lose its function in the cell membrane: the protein no longer transports glucose from the blood into the brain. Miniscule changes in previously little-noticed flexible segments of the Glut1 protein could lead to severe cellular disturbances, other genetic disorders might be caused by the same mechanism.
Within the Glut1 gene, there are many places where a mutation can disrupt the Glut1 protein’s three-dimensional structure, leading to loss of function, malformed and contorted. The protein can no longer carry out its task in the cellular machinery thus triggers the syndrome.
In one-fifth of all genetic diseases, according to the scientist, the protein structure doesn’t appear to be damaged at all. In such cases, the mutation occurs in flexible loops in the proteins, which until recently were thought to have no function because they lack a defined structure. Many cellular processes are based on such interactions between proteins.
The molecules interlock with each other like cogs, transfer energy, or move levers and conveyor belt systems. Even a single protein in the wrong place can have drastic consequences. Researchers recreated 258 flexible protein regions in test tubes-both “healthy” variants as well as disease-related ones and then adding human cell extracts. The next step involved using mass spectrometry to determine which proteins interact with the artificial proteins.
The mutated and “healthy” regions mostly docked onto the same binding partners. But some of the mutated proteins completely lost this ability or bound to other proteins and thus disrupted the operation of the cellular machinery. Some genetic changes even affect intracellular protein transport through this process. An example is a mutation in the gene for the Glut1 protein that causes two specific building blocks of protein, namely leucines, to lie next to one another, creating a so-called dileucine motif. This pattern attract proteins that aid the cell in transporting other proteins inside its interior.
Protein in the wrong place is the major problem for seizure, the mutated Glut1 protein was no longer present on the cell surface, where it takes up glucose. The protein was in the cell’s interior. Ketogenic diet can relieve the condition which involves avoiding foods that contain sugar and starch. Such a regimen usually causes the seizures to stop because the brain cells receive their energy from a different source.